Varaico: Literature-Extracted Genetic Variants

ADAM17

255 papers

RefSeq Summary

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and ha...

Pfam Domains

Reprolysin_2aa 244–464UCSCMetallo-peptidase family M12B Reprolysin-like

Disintegrinaa 484–558UCSCDisintegrin

ADAM17_MPDaa 581–642UCSCMembrane-proximal domain, switch, for ADAM17

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 17

HGNC Previous Symbol

TACE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003183.6

p.P181Q

c.542C>A

Surrounding Variants

2 papers

NM_003183.6

p.Q179R

c.536A>G

2 papers

NM_003183.6

p.R177C

c.529C>T

1 paper

NM_003183.6

p.D190Y

c.568G>T

1 paper

NM_003183.6

p.S169Y

c.506C>A

1 paper

NM_003183.6

p.K197R

c.590A>G

1 paper

NM_003183.6

p.K162E

c.484A>G

1 paper

NM_003183.6

p.D161N

c.481G>A

1 paper

NM_003183.6

p.D201E

c.603C>A

4 papers

NM_003183.6

p.R202G

c.604A>G

1 paper

NM_003183.6

p.P204Q

c.611C>A

1 paper

NM_003183.6

p.R154K

c.461G>A

1 paper

NM_003183.6

p.P151T

c.451C>A